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Rivista di Angiologia

Official Journal of the International Union of Angiology, the International Union of Phlebology and the Central European Vascular Forum
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International Angiology 2002 September;21(3):268-71

lingua: Inglese

Lack of association between the C677T mutation in the 5,10-methylenetetrahydrofolate reductase gene and venous thromboembolism in Northwestern Greece

Zalavras Ch. G. 1, Giotopoulou S. 2, Dokou E. 2, Mitsis M. 3, Ioannou H. V. 3, Tzolou A. 4, Kolaitis N. 2, Vartholomatos G. 2

1 Depart­ment of Ortho­paed­ic Sur­gery,
2 Hae­ma­tol­o­gy Labor­a­to­ry, Unit of Molec­u­lar Biol­o­gy
3 Depart­ment of Sur­gery,
4 Blood Bank, Uni­ver­sity Hos­pi­tal of Ioan­ni­na, Ioan­ni­na, ­Greece


Back­ground. Hyper­hom­o­cys­tei­ne­mia has been asso­ciat­ed with ­venous throm­bo­sis. Under known and ­unknown con­di­tions the C677T muta­tion in the 5,10-meth­yl­enet­e­tra­hy­drof­o­late reduc­tase (MTHFR) gene is accom­pa­nied by ele­vat­ed lev­els of homo­cys­teine. How­ev­er, the rela­tion­ship of this muta­tion with ­venous throm­boem­bo­lism (VTE) ­remains con­tro­ver­sial. The pur­pose of this study was to eval­u­ate the asso­ci­a­tion of the MTHFR muta­tion with VTE.
Meth­ods. The pres­ence of the C677T muta­tion in the MTHFR gene was inves­ti­gat­ed in a pop­u­la­tion of 176 con­sec­u­tive ­patients with a his­to­ry of ­venous throm­boem­bo­lism and in a con­trol group of 300 ­healthy sub­jects, using DNA anal­y­sis.
­Results. The prev­a­lence of homo­zy­gos­ity in the ­patient group was 13.6% and in ­healthy sub­jects 10%. The odds ratio for ­venous throm­boem­bo­lism in the pres­ence of the homo­zy­gous gen­o­type (677TT) was 1.4 (95% con­fi­dence inter­val (C.I.), 0.8 to 2.5), which was not sta­tis­ti­cal­ly sig­nif­i­cant.
Con­clu­sions. Homo­zy­gos­ity for the T677 ­allele of the MTHFR gene, ­although slight­ly more prev­a­lent in ­patients com­pared to con­trols, has not been found in asso­ci­a­tion with ­venous throm­boem­bo­lism.

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